Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

The information in this directory is intended for informational purposes only and may not reflect all recent updates. 

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

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82 Results

Perinatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Perinatal
Test Type: Other

Phenylketonuria

Category: Metabolic
Subcategory: Amino Acid Disorders

Phenylketonuria: Biopterin deficiencies

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Phenylketonuria: PAH deficiency

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Single Gene

Postnatal chromosome microarray

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Postnatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Prenatal chromosome microarray

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Prenatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Prenatal
Test Type: Other

Primary immune deficiencies

Category: Immunity
Subcategory: Primary immune deficiencies
Test Type: Gene Panel

Progressive external ophthalmoplegia (PEO) and Optic atrophy

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel